Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HMBOX1 (homeobox containing 1)

Identity

Alias_symbol (synonym)HNF1LA
PBHNF
FLJ21616
HOT1
Other alias
HGNC (Hugo) HMBOX1
LocusID (NCBI) 79618
Atlas_Id 51358
Location 8p21.1  [Link to chromosome band 8p21]
Location_base_pair Starts at 28890370 and ends at 29053270 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HMBOX1 (8p21.1) / MALAT1 (11q13.1)HMBOX1 (8p21.1) / SCARA3 (8p21.1)HMBOX1 (8p21.1) / ZFAND3 (6p21.2)
SRSF6 (20q13.11) / HMBOX1 (8p21.1)HMBOX1 8p21.1 / SCARA3 8p21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)HMBOX1   26137
Cards
Entrez_Gene (NCBI)HMBOX1  79618  homeobox containing 1
AliasesHNF1LA; HOT1; PBHNF
GeneCards (Weizmann)HMBOX1
Ensembl hg19 (Hinxton)ENSG00000147421 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147421 [Gene_View]  chr8:28890370-29053270 [Contig_View]  HMBOX1 [Vega]
ICGC DataPortalENSG00000147421
TCGA cBioPortalHMBOX1
AceView (NCBI)HMBOX1
Genatlas (Paris)HMBOX1
WikiGenes79618
SOURCE (Princeton)HMBOX1
Genetics Home Reference (NIH)HMBOX1
Genomic and cartography
GoldenPath hg38 (UCSC)HMBOX1  -     chr8:28890370-29053270 +  8p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMBOX1  -     8p21.1   [Description]    (hg19-Feb_2009)
EnsemblHMBOX1 - 8p21.1 [CytoView hg19]  HMBOX1 - 8p21.1 [CytoView hg38]
Mapping of homologs : NCBIHMBOX1 [Mapview hg19]  HMBOX1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA400589 AK025269 AK096237 AK290683 AK295320
RefSeq transcript (Entrez)NM_001135726 NM_001324382 NM_001324383 NM_001324384 NM_001324385 NM_001324386 NM_001324387 NM_001324388 NM_001324389 NM_001324390 NM_001324391 NM_001324392 NM_001324393 NM_001324394 NM_001324395 NM_001330498 NM_024567
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMBOX1
Cluster EST : UnigeneHs.598881 [ NCBI ]
CGAP (NCI)Hs.598881
Alternative Splicing GalleryENSG00000147421
Gene ExpressionHMBOX1 [ NCBI-GEO ]   HMBOX1 [ EBI - ARRAY_EXPRESS ]   HMBOX1 [ SEEK ]   HMBOX1 [ MEM ]
Gene Expression Viewer (FireBrowse)HMBOX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79618
GTEX Portal (Tissue expression)HMBOX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NT76   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NT76  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NT76
Splice isoforms : SwissVarQ6NT76
PhosPhoSitePlusQ6NT76
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)HNF-1_N    Homeobox-like    Homeobox_dom    Lambda_DNA-bd_dom   
Domain families : Pfam (Sanger)HNF-1_N (PF04814)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam04814    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)HMBOX1
DMDM Disease mutations79618
Blocks (Seattle)HMBOX1
PDB (SRS)2CUF    4J19   
PDB (PDBSum)2CUF    4J19   
PDB (IMB)2CUF    4J19   
PDB (RSDB)2CUF    4J19   
Structural Biology KnowledgeBase2CUF    4J19   
SCOP (Structural Classification of Proteins)2CUF    4J19   
CATH (Classification of proteins structures)2CUF    4J19   
SuperfamilyQ6NT76
Human Protein AtlasENSG00000147421
Peptide AtlasQ6NT76
HPRD07964
IPIIPI00002265   IPI00074230   IPI00748642   IPI00845486   IPI00956180   IPI00979015   IPI00980516   IPI00976581   IPI00976031   
Protein Interaction databases
DIP (DOE-UCLA)Q6NT76
IntAct (EBI)Q6NT76
FunCoupENSG00000147421
BioGRIDHMBOX1
STRING (EMBL)HMBOX1
ZODIACHMBOX1
Ontologies - Pathways
QuickGOQ6NT76
Ontology : AmiGOnuclear chromosome, telomeric region  double-stranded telomeric DNA binding  telomerase activity  protein binding  nucleus  nucleoplasm  telomerase holoenzyme complex  cytoplasm  cytosol  RNA-dependent DNA biosynthetic process  transcription, DNA-templated  nuclear body  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  protein complex binding  positive regulation of chromatin binding  telomeric DNA binding  telomeric DNA binding  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of telomerase activity  positive regulation of telomerase activity  
Ontology : EGO-EBInuclear chromosome, telomeric region  double-stranded telomeric DNA binding  telomerase activity  protein binding  nucleus  nucleoplasm  telomerase holoenzyme complex  cytoplasm  cytosol  RNA-dependent DNA biosynthetic process  transcription, DNA-templated  nuclear body  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  protein complex binding  positive regulation of chromatin binding  telomeric DNA binding  telomeric DNA binding  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of telomerase activity  positive regulation of telomerase activity  
NDEx NetworkHMBOX1
Atlas of Cancer Signalling NetworkHMBOX1
Wikipedia pathwaysHMBOX1
Orthology - Evolution
OrthoDB79618
GeneTree (enSembl)ENSG00000147421
Phylogenetic Trees/Animal Genes : TreeFamHMBOX1
HOVERGENQ6NT76
HOGENOMQ6NT76
Homologs : HomoloGeneHMBOX1
Homology/Alignments : Family Browser (UCSC)HMBOX1
Gene fusions - Rearrangements
Fusion : MitelmanHMBOX1/SCARA3 [8p21.1/8p21.1]  
Fusion : MitelmanHMBOX1/ZFAND3 [8p21.1/6p21.2]  [t(6;8)(p21;p21)]  
Fusion: TCGAHMBOX1 8p21.1 SCARA3 8p21.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMBOX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMBOX1
dbVarHMBOX1
ClinVarHMBOX1
1000_GenomesHMBOX1 
Exome Variant ServerHMBOX1
ExAC (Exome Aggregation Consortium)HMBOX1 (select the gene name)
Genetic variants : HAPMAP79618
Genomic Variants (DGV)HMBOX1 [DGVbeta]
DECIPHERHMBOX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMBOX1 
Mutations
ICGC Data PortalHMBOX1 
TCGA Data PortalHMBOX1 
Broad Tumor PortalHMBOX1
OASIS PortalHMBOX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMBOX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMBOX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HMBOX1
DgiDB (Drug Gene Interaction Database)HMBOX1
DoCM (Curated mutations)HMBOX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMBOX1 (select a term)
intoGenHMBOX1
Cancer3DHMBOX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHMBOX1
Genetic Testing Registry HMBOX1
NextProtQ6NT76 [Medical]
TSGene79618
GENETestsHMBOX1
Target ValidationHMBOX1
Huge Navigator HMBOX1 [HugePedia]
snp3D : Map Gene to Disease79618
BioCentury BCIQHMBOX1
ClinGenHMBOX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79618
Chemical/Pharm GKB GenePA143485490
Clinical trialHMBOX1
Miscellaneous
canSAR (ICR)HMBOX1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMBOX1
EVEXHMBOX1
GoPubMedHMBOX1
iHOPHMBOX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:55:27 CEST 2017

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